Cerebral vascular malformations

Gene: HBB

Amber List (moderate evidence)

HBB (hemoglobin subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000244734
EnsemblGeneIds (GRCh37): ENSG00000244734
OMIM: 141900, Gene2Phenotype
HBB is in 9 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

CVM is not a common feature of this condition. It has been reported before in individuals however no genetic testing was conducted to confirm the presence of a pathogenic variant in HBB associated with CVM/CM-AVM.
Created: 19 Nov 2024, 1:13 a.m. | Last Modified: 19 Nov 2024, 1:13 a.m.
Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
sickle cell anemia MONDO:0011382

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Amber
Phenotypes
  • Sickle cell anemia 603903
OMIM
141900
Clinvar variants
Variants in HBB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 May 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HBB was added gene: HBB was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HBB were set to 20301551 Phenotypes for gene: HBB were set to Sickle cell anemia 603903